Key Publications

See all of Rebecca’s Publications Here

Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of multiple sulfatase deficiency

Pham, V., Tricoli, L., Hong, X., Wongkittichote, P., Castracani, C. C., Guerra, A., Schlotawa, L., Adang, L. A., Kuhs, A., Cassidy, M. M., Kane, O., Tsai, E., Presa, M., Lutz, C., Rivella, S. B. & Ahrens-Nicklas, R. C. “Hematopoietic Stem Cell Gene Therapy Improves Outcomes in a Clinically Relevant Mouse Model of Multiple Sulfatase Deficiency.” Molecular Therapy 32.11 (2024): 3829–3846. Web.

Bone marrow transplantation increases sulfatase activity in somatic tissues in a multiple sulfatase deficiency mouse model

Presa, M., Pham, V., Ray, S., Piec, P.-A., Ryan, J., Billings, T., Coombs, H., Schlotawa, L., Lund, T., Ahrens-Nicklas, R. C. & Lutz, C. (2024). Bone marrow transplantation increases sulfatase activity in somatic tissues in a multiple sulfatase deficiency mouse model. Communications Medicine, 4(1), 215. https://doi.org/10.1038/s43856-024-00648-y

Nomakuchi, T.T., Teferedegn, E.Y., Li, D., Muirhead, K.J., Dubbs, H., Leonard, J., Muraresku, C., Sergio, E., Arnold, K., Pizzino, A., Skraban, C.M., Zackai, E.H., Wang, K., Ganetzky, R.D., Vanderver, A.L., Ahrens-Nicklas, R.C., Bhoj, E.J.K., 2024. Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypes. Am. J. Méd. Genet. Part A e63817. doi:10.1002/ajmg.a.63817

Ohl, L., Kuhs, A., Pluck, R., Durham, E., Noji, M., Philip, N. D., Arany, Z. & Ahrens-Nicklas, R. C. (2024). Partial suppression of BCAA catabolism as a potential therapy for BCKDK deficiency. Molecular Genetics and Metabolism Reports, 39, 101091. https://doi.org/10.1016/j.ymgmr.2024.101091

Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy

Keisling, J., Bedoukian, E., Burstein, D. S., Gaynor, J. W., Gray, C., Krantz, I., Izumi, K., Leonard, J., Lin, K. Y., Medne, L., Seymour, C., Skraban, C., Rippert, A. L. & Ahrens-Nicklas, R. C. (2024). Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy. The Journal of Pediatrics, 265, 113808. https://doi.org/10.1016/j.jpeds.2023.113808

A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency

Pham, V., Finoti, L. S., Cassidy, M. M., Maguire, J. A., Gagne, A. L., Waxman, E. A., French, D. L., King, K., Zhou, Z., Gelb, M. H., Wongkittichotee, P., Hong, X., Schlotawa, L., Davidson, B. L. & Ahrens-Nicklas, R. C. (2023). A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency. Molecular Genetics and Metabolism, 108116. https://doi.org/10.1016/j.ymgme.2023.108116

Efficient in vivo prime editing corrects the most frequent phenylketonuria variant, associated with high unmet medical need

Brooks, D. L., Whittaker, M. N., Qu, P., Musunuru, K., Ahrens-Nicklas, R. C. & Wang, X. (2023). Efficient in vivo prime editing corrects the most frequent phenylketonuria variant, associated with high unmet medical need. The American Journal of Human Genetics, 110(12), 2003–2014. https://doi.org/10.1016/j.ajhg.2023.10.005

Biochemical signatures of disease severity in multiple sulfatase deficiency

Adang, L. A., Mowafy, S., Herbst, Z. M., Zhou, Z., Schlotawa, L., Radhakrishnan, K., Bentley, B., Pham, V., Yu, E., Pillai, N. R., Orchard, P. J., Castro, M. D., Vanderver, A., Pasquali, M., Gelb, M. H. & Ahrens-Nicklas, R. C. (2023). Biochemical signatures of disease severity in multiple sulfatase deficiency. Journal of Inherited Metabolic Disease. https://doi.org/10.1002/jimd.12688

Neuronal genetic rescue normalizes brain network dynamics in a lysosomal storage disorder despite persistent storage accumulation.

Ahrens-Nicklas, R. C., Tecedor, L., Hall, A. F., Kane, O., Chung, R. J., Lysenko, E., Marsh, E. D., Stein, C. S. & Davidson, B. L. (2022). Neuronal genetic rescue normalizes brain network dynamics in a lysosomal storage disorder despite persistent storage accumulation. Mol Ther, 30(7), 2464–2473. https://doi.org/10.1016/j.ymthe.2022.03.025

Neuronal network dysfunction precedes storage and neurodegeneration in a lysosomal storage disorder

Ahrens-Nicklas, R. C., Tecedor, L., Hall, A. F., Lysenko, E., Cohen, A. S., Davidson, B. L. & Marsh, E. D. (2019). Neuronal network dysfunction precedes storage and neurodegeneration in a lysosomal storage disorder. JCI Insight, 4(21). https://doi.org/10.1172/jci.insight.131961